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Reviews in Endocrine and Metabolic Disorders

, Volume 8, Issue 4, pp 349–363 | Cite as

Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

  • Felix G. RiepeEmail author
  • Wolfgang G. Sippell
Article

Abstract

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal-recessive disease causing cortisol deficiency, aldosterone deficiency and hyperandrogenism. Diagnosis of 21-OHD is confirmed by steroid analysis in newborn screening or later on. Standard medical treatment consists of oral glucocorticoid and mineralocorticoid administration in order to suppress adrenal androgens and to compensate for adrenal steroid deficiencies. However, available treatment is far from ideal, and not much is known about the long-term outcome in CAH as trials in patients in adulthood or old age are rare. Here we briefly describe the pathophysiology, clinical picture, genetics and epidemiology of 21-OHD. This is followed by a comprehensive review of the recent advances in diagnosis, treatment and outcome. Novel insights have been gained in the fields of newborn screening, specific steroid measurement utilizing mass spectrometry, genetics, glucocorticoid stress dosing, additive medical therapy, prenatal treatment, side-effects of medical treatment, adrenomedullary involvement, metabolic morbidity, fertility and gender identity. However, many issues are still unresolved, and novel questions, which will have to be answered in the future, arise with every new finding.

Keywords

Congenital adrenal hyperplasia 21-hydroxylase deficiency Newborn screening Steroid detection Mortality Growth Fertility 

Notes

Acknowledgements

The authors acknowledge an ongoing institutional grant from the Medical Faculty, Christian-Albrechts-Universität zu Kiel and thank Mrs. Joanna Voerste for linguistic assistance with the text.

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Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  1. 1.Division of Pediatric Endocrinology, Department of PediatricsChristian-Albrechts-Universität KielKielGermany

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